|
2
|
2
|
651
|
0.79
|
cancer or benign tumor (0.58), neoplastic disease or syndrome (0.58), neoplasm (0.55), genetic, familial or congenital disease (0.28), genetic disorder (0.27), cancer (0.27), epithelial neoplasm (0.18)
|
|
6
|
6
|
400
|
0.82
|
genetic, familial or congenital disease (0.46), genetic disorder (0.42), musculoskeletal or connective tissue disease (0.21), musculoskeletal system disease (0.19), skeletal system disease (0.17), measurement (0.15), eye disease (0.14)
|
|
1
|
1
|
337
|
0.79
|
genetic, familial or congenital disease (0.66), genetic disorder (0.64), nutritional or metabolic disease (0.51), metabolic disease (0.5), inborn errors of metabolism (0.44), nervous system disease (0.19), inborn disorder of energy metabolism (0.15)
|
|
4
|
4
|
336
|
0.84
|
measurement (0.34), genetic disorder (0.26), genetic, familial or congenital disease (0.26), metabolic disease (0.18), nutritional or metabolic disease (0.18), protein measurement (0.13), inborn errors of metabolism (0.13)
|
|
3
|
3
|
326
|
0.85
|
immune system disease (0.3), genetic, familial or congenital disease (0.26), genetic disorder (0.25), measurement (0.2), gastrointestinal disease (0.13), musculoskeletal or connective tissue disease (0.12), musculoskeletal system disease (0.11)
|
|
11
|
11
|
262
|
0.80
|
nervous system disease (0.43), central nervous system disease (0.35), brain disease (0.32), genetic, familial or congenital disease (0.32), genetic disorder (0.3), phenotype (0.21), Phenotypic abnormality (0.2)
|
|
7
|
7
|
240
|
0.81
|
genetic, familial or congenital disease (0.54), genetic disorder (0.5), musculoskeletal system disease (0.32), musculoskeletal or connective tissue disease (0.32), muscle tissue disorder (0.27), cardiovascular disease (0.23), nervous system disease (0.22)
|
|
18
|
18
|
119
|
0.83
|
genetic, familial or congenital disease (0.61), genetic disorder (0.58), nervous system disease (0.53), central nervous system disease (0.41), neurodegenerative disease (0.3), inherited neurodegenerative disorder (0.24), neuropathy (0.21)
|
|
15
|
15
|
101
|
0.82
|
genetic disorder (0.54), genetic, familial or congenital disease (0.54), nervous system disease (0.52), disorder of visual system (0.42), psychiatric disorder (0.4), perceptual disorders (0.39), eye disease (0.38)
|
|
8
|
8
|
93
|
0.75
|
measurement (0.91), anthropometric measurement (0.18), protein measurement (0.15), hematological measurement (0.12), body weights and measures (0.11), bone measurement (0.06), renal system measurement (0.05)
|
|
12
|
12
|
88
|
0.87
|
genetic, familial or congenital disease (0.67), genetic disorder (0.66), skeletal system disease (0.22), musculoskeletal system disease (0.22), musculoskeletal or connective tissue disease (0.22), kidney disease (0.19), urinary system disease (0.19)
|
|
17
|
17
|
83
|
0.90
|
genetic disorder (0.33), genetic, familial or congenital disease (0.33), nervous system disease (0.29), central nervous system disease (0.23), endocrine system disease (0.22), brain disease (0.16), neoplasm (0.13)
|
|
25
|
25
|
65
|
0.88
|
phenotype (0.55), Phenotypic abnormality (0.52), genetic disorder (0.12), measurement (0.12), genetic, familial or congenital disease (0.12), Abnormality of the skeletal system (0.11), Abnormal skeletal morphology (0.11)
|
|
13
|
13
|
61
|
0.90
|
genetic disorder (0.38), genetic, familial or congenital disease (0.38), integumentary system disease (0.16), skin disease (0.15), measurement (0.15), metabolic disease (0.13), nervous system disease (0.13)
|
|
57
|
57
|
28
|
0.84
|
genetic, familial or congenital disease (0.75), genetic disorder (0.68), disorder of visual system (0.68), eye disease (0.64), lens disease (0.43), cataract (0.39), early-onset non-syndromic cataract (0.36)
|
|
55
|
55
|
27
|
0.89
|
genetic disorder (0.89), genetic, familial or congenital disease (0.89), metabolic disease (0.7), inborn errors of metabolism (0.7), nutritional or metabolic disease (0.7), lysosomal storage disease (0.56), nervous system disease (0.44)
|
|
62
|
62
|
21
|
0.85
|
integumentary system disease (0.86), skin disease (0.71), genetic disorder (0.67), genetic, familial or congenital disease (0.67), epidermal disease (0.52), hereditary skin disorder (0.48), keratinization disease (0.33)
|
|
38
|
38
|
19
|
0.91
|
measurement (0.68), respiratory system disease (0.26), infectious disease (0.26), respiratory or thoracic disease (0.26), viral disease (0.21), respiratory tract infectious disorder (0.21), brain measurement (0.16)
|
|
49
|
49
|
19
|
0.87
|
biological_process (0.79), metabolic process (0.63), cellular process (0.32), cellular metabolic process (0.26), organic substance metabolic process (0.26), measurement (0.21), nitrogen compound metabolic process (0.16)
|
|
26
|
26
|
17
|
0.93
|
measurement (0.41), nervous system disease (0.24), mental or behavioural disorder (0.24), brain disease (0.24), central nervous system disease (0.24), psychiatric disorder (0.24), anthropometric measurement (0.18)
|
|
29
|
29
|
16
|
0.92
|
phenotype (0.5), Phenotypic abnormality (0.5), genetic, familial or congenital disease (0.25), genetic disorder (0.19), gastrointestinal disease (0.19), Abnormality of the digestive system (0.19), measurement (0.12)
|
|
31
|
31
|
12
|
0.93
|
skeletal system disease (0.42), bone disease (0.42), musculoskeletal system disease (0.42), musculoskeletal or connective tissue disease (0.42), genetic disorder (0.33), urinary system disease (0.33), genetic, familial or congenital disease (0.33)
|
|
23
|
23
|
10
|
0.97
|
measurement (0.4), psychiatric disorder (0.3), substance-related disorder (0.3), nervous system disease (0.2), mental or behavioural disorder (0.2), respiratory system disease (0.2), brain disease (0.2)
|
|
33
|
33
|
7
|
0.98
|
pregnancy or perinatal disease (0.43), genetic disorder (0.14), phenotype (0.14), measurement (0.14), eye disease (0.14), anthropometric measurement (0.14), body weights and measures (0.14)
|
|
41
|
41
|
7
|
0.94
|
measurement (0.71), genetic disorder (0.29), carotid artery measurement (0.29), genetic, familial or congenital disease (0.29), skin disease (0.14), brain measurement (0.14), nervous system measurement (0.14)
|
|
20
|
20
|
6
|
0.92
|
musculoskeletal or connective tissue disease (0.5), musculoskeletal system disease (0.33), skeletal system disease (0.17), urinary system disease (0.17)
|
|
21
|
21
|
6
|
0.93
|
infectious disease (1), skin disease (0.67), integumentary system disease (0.67), viral disease (0.5), skin disorder caused by infection (0.5), bacterial disease (0.33), vesiculobullous skin disease (0.33)
|
|
27
|
27
|
6
|
0.94
|
phenotype (0.67), Phenotypic abnormality (0.67), Abnormality of the urinary system (0.5), Proteinuria (0.33), Abnormality of metabolism/homeostasis (0.33), Abnormality of urine homeostasis (0.33), Abnormality of the urinary system physiology (0.33)
|
|
9
|
9
|
4
|
0.93
|
respiratory system disease (1), lower respiratory tract disease (1), respiratory or thoracic disease (1), lung disease (0.5), upper respiratory tract disorder (0.5), chronic lung disease (0.25), tracheal disorder (0.25)
|
|
16
|
16
|
3
|
0.94
|
reproductive system disease (1), female reproductive system disease (1), reproductive system or breast disease (1), infertility (0.67), genetic disorder (0.33), female infertility (0.33), endometrial disorder (0.33)
|
|
22
|
22
|
3
|
0.86
|
phenotype (1), sign or symptom (0.33), Phenotypic abnormality (0.33)
|
|
34
|
34
|
3
|
0.96
|
intestinal disease (0.67), gastrointestinal disease (0.67), measurement (0.33), brain measurement (0.33), intestinal obstruction (0.33)
|
|
43
|
43
|
3
|
0.95
|
measurement (1), cardiovascular measurement (1), cardiovascular disease biomarker measurement (0.67), ejection fraction measurement (0.33)
|
|
65
|
65
|
3
|
0.97
|
phenotype (0.67), Phenotypic abnormality (0.67), eye disease (0.33), Abnormality of the eye (0.33), Abnormality of refraction (0.33), disorder of visual system (0.33)
|
|
14
|
14
|
2
|
0.97
|
temporal measurement (1), measurement (1), clinical temporal measurement (1), survival time (0.5), population measurement (0.5)
|
|
19
|
19
|
2
|
0.97
|
cardiovascular disease (1), hypertension (1), vascular disease (1), arterial disorder (1), respiratory system disease (0.5), pulmonary hypertension (0.5), respiratory or thoracic disease (0.5)
|
|
28
|
28
|
2
|
0.97
|
skin disease (1), integumentary system disease (1), disorder of pilosebaceous unit (1), genetic disorder (0.5), inflammatory skin disease (0.5), sebaceous gland disease (0.5), dermatitis (0.5)
|
|
32
|
32
|
2
|
1.00
|
nervous system disease (0.5), measurement (0.5)
|
|
35
|
35
|
2
|
0.98
|
measurement (1), insulin measurement (0.5), hormone measurement (0.5), protein measurement (0.5), respiratory disease biomarker (0.5), diabetes mellitus biomarker (0.5)
|
|
39
|
39
|
2
|
1.00
|
measurement (0.5), brain measurement (0.5), nervous system measurement (0.5), Alzheimer’s disease biomarker measurement (0.5), mental or behavioural disorder biomarker (0.5), brain volume measurement (0.5), intestinal disease (0.5)
|
|
45
|
45
|
2
|
1.00
|
phenotype (0.5), measurement (0.5), sign or symptom (0.5)
|
|
47
|
47
|
2
|
0.96
|
measurement (1), mental or behavioural disorder biomarker (1), behavioural disinhibition measurement (0.5)
|
|
54
|
54
|
2
|
0.97
|
eye disease (1), disorder of visual system (1), cardiovascular disease (0.5), nervous system disease (0.5), retinopathy (0.5), vascular disease (0.5), ocular vascular disease (0.5)
|
|
56
|
56
|
2
|
0.92
|
gastrointestinal disease (1), upper digestive tract disorder (0.5)
|
|
59
|
59
|
2
|
1.00
|
phenotype (0.5), measurement (0.5), drug use measurement (0.5), Phenotypic abnormality (0.5), Abnormality of the skeletal system (0.5), Abnormal digit morphology (0.5), Abnormal skeletal morphology (0.5)
|
|
66
|
66
|
2
|
0.99
|
phenotype (1), Phenotypic abnormality (1), Abnormality of blood and blood-forming tissues (1), Abnormal leukocyte morphology (1), Abnormality of the immune system (1), Granulocytopenia (0.5)
|
|
67
|
67
|
2
|
0.99
|
phenotype (1), Phenotypic abnormality (1), Abnormality of the cardiovascular system (1), Abnormality of the vasculature (1), Abnormal cardiovascular system morphology (1), Abnormal venous morphology (0.5)
|
|
72
|
72
|
2
|
0.98
|
nervous system disease (1), peripheral neuropathy (1), neuropathy (1), peripheral nervous system disease (1), neuromuscular disease (1), genetic disorder (0.5), sensory peripheral neuropathy (0.5)
|
|
75
|
75
|
2
|
0.98
|
skeletal system disease (1), bone disease (1), musculoskeletal system disease (1), bone remodeling disease (1), musculoskeletal or connective tissue disease (1), genetic disorder (0.5), osteosclerosis (0.5)
|
|
5
|
5
|
1
|
NaN
|
hematologic disease (1)
|
|
10
|
10
|
1
|
1.00
|
metabolic disease (1), kidney disease (1), chronic kidney disease (1), urinary system disease (1), nutritional or metabolic disease (1)
|
|
24
|
24
|
1
|
1.00
|
cardiovascular disease (1), nervous system disease (1), cerebrovascular disorder (1), vascular disease (1), brain disease (1), central nervous system disease (1), cerebral arterial disease (1)
|
|
30
|
30
|
1
|
1.00
|
respiratory system disease (1), lung disease (1), lower respiratory tract disease (1), respiratory or thoracic disease (1)
|
|
36
|
36
|
1
|
1.00
|
measurement (1), hematological measurement (1), protein measurement (1), alpha globulin measurement (1)
|
|
37
|
37
|
1
|
1.00
|
age (1), temporal measurement (1), measurement (1)
|
|
40
|
40
|
1
|
1.00
|
measurement (1), anthropometric measurement (1), body weights and measures (1)
|
|
42
|
42
|
1
|
1.00
|
measurement (1), protein measurement (1), Alzheimer’s disease biomarker measurement (1), mental or behavioural disorder biomarker (1)
|
|
44
|
44
|
1
|
1.00
|
measurement (1), mammographic density measurement (1)
|
|
46
|
46
|
1
|
1.00
|
measurement (1), brain measurement (1), nervous system measurement (1), brain volume measurement (1)
|
|
48
|
48
|
1
|
1.00
|
respiratory system disease (1), muscular disease (1), musculoskeletal system disease (1), muscle tissue disorder (1), skeletal muscle disorder (1), musculoskeletal or connective tissue disease (1), respiratory or thoracic disease (1)
|
|
50
|
50
|
1
|
1.00
|
measurement (1), mental or behavioural disorder biomarker (1)
|
|
51
|
51
|
1
|
1.00
|
measurement (1), brain measurement (1), cortical surface area measurement (1)
|
|
52
|
52
|
1
|
NaN
|
measurement (1)
|
|
53
|
53
|
1
|
NaN
|
measurement (1)
|
|
58
|
58
|
1
|
1.00
|
kidney disease (1), chronic kidney disease (1), urinary system disease (1)
|
|
60
|
60
|
1
|
1.00
|
nervous system disease (1), mental or behavioural disorder (1), brain disease (1), central nervous system disease (1), psychiatric disorder (1)
|
|
61
|
61
|
1
|
1.00
|
measurement (1), infectious disease biomarker (1)
|
|
63
|
63
|
1
|
1.00
|
biological_process (1), response to stimulus (1)
|
|
64
|
64
|
1
|
1.00
|
biological_process (1), response to stimulus (1)
|
|
68
|
68
|
1
|
1.00
|
phenotype (1), Phenotypic abnormality (1), Abnormality of the liver (1), Abnormality of the abdominal organs (1), Abnormality of the immune system (1), Abnormal inflammatory response (1), Increased inflammatory response (1)
|
|
69
|
69
|
1
|
1.00
|
phenotype (1), Phenotypic abnormality (1), Abnormality of the nervous system (1), Global developmental delay (1), Abnormal nervous system physiology (1), Neurodevelopmental delay (1), Neurodevelopmental abnormality (1)
|
|
70
|
70
|
1
|
1.00
|
genetic disorder (1), autosomal genetic disease (1), genetic, familial or congenital disease (1)
|
|
71
|
71
|
1
|
1.00
|
genetic disorder (1), kidney disease (1), urinary system disease (1), inherited kidney disorder (1), genetic, familial or congenital disease (1)
|
|
73
|
73
|
1
|
1.00
|
eye disease (1), disorder of visual system (1)
|
|
74
|
74
|
1
|
1.00
|
intestinal disease (1), gastrointestinal disease (1), small intestine disorder (1)
|
|
76
|
76
|
1
|
1.00
|
skin disease (1), gastrointestinal disease (1), integumentary system disease (1), ulcer disease (1)
|
|
77
|
77
|
1
|
1.00
|
genetic disorder (1), metabolic disease (1), disorder of metabolite absorption and transport (1), disorder of mineral absorption and transport (1), inborn errors of metabolism (1), genetic, familial or congenital disease (1), nutritional or metabolic disease (1)
|
|
78
|
78
|
1
|
1.00
|
integumentary system disease (1), disorder of pilosebaceous unit (1)
|
|
79
|
79
|
1
|
1.00
|
genetic disorder (1), skeletal system disease (1), bone disease (1), musculoskeletal system disease (1), skeletal dysplasia (1), musculoskeletal or connective tissue disease (1), genetic, familial or congenital disease (1)
|
|
80
|
80
|
1
|
1.00
|
intestinal disease (1), gastrointestinal disease (1)
|
|
81
|
81
|
1
|
1.00
|
genetic disorder (1), connective tissue disease (1), musculoskeletal or connective tissue disease (1), genetic, familial or congenital disease (1)
|
|
82
|
82
|
1
|
1.00
|
genetic disorder (1), Rare genetic developmental defect during embryogenesis (1), genetic, familial or congenital disease (1)
|